Variant report

Variant	rs57948635
Chromosome Location	chr5:112539093-112539094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr5:112538988-112539118	K562	blood:	n/a	chr5:112539053-112539062
2	RCOR1	chr5:112538910-112539135	Hela-S3	cervix:	n/a	n/a
3	MAX	chr5:112538711-112539304	Hela-S3	cervix:	n/a	n/a
4	MAX	chr5:112538901-112539233	HepG2	liver:	n/a	n/a
5	BHLHE40	chr5:112538885-112539257	K562	blood:	n/a	n/a
6	MYC	chr5:112538869-112539334	K562	blood:	n/a	n/a
7	POLR2A	chr5:112538729-112539576	U87	brain:	n/a	n/a
8	CHD2	chr5:112539008-112539130	HepG2	liver:	n/a	n/a
9	FOS	chr5:112538839-112539445	MCF10A-Er-Src	breast:	n/a	chr5:112539051-112539061 chr5:112539052-112539060 chr5:112539050-112539062 chr5:112539051-112539061 chr5:112539051-112539061
10	MYC	chr5:112538745-112539283	Hela-S3	cervix:	n/a	n/a
11	KAP1	chr5:112538696-112539860	U2OS	brain:	n/a	chr5:112538767-112538775
12	MAX	chr5:112538489-112539551	HCT-116	colon:	n/a	n/a
13	MAX	chr5:112538965-112539182	K562	blood:	n/a	n/a
14	FOXA2	chr5:112539042-112539374	HepG2	liver:	n/a	n/a
15	POLR2A	chr5:112538713-112539273	HCT-116	colon:	n/a	n/a
16	TCF7L2	chr5:112538829-112539203	HCT-116	colon:	n/a	n/a
17	RXRA	chr5:112538761-112539280	SK-N-SH	brain:	n/a	n/a
18	USF1	chr5:112538961-112539239	HepG2	liver:	n/a	chr5:112539113-112539124
19	EP300	chr5:112538855-112539322	HepG2	liver:	n/a	n/a
20	FOS	chr5:112538874-112539243	MCF10A-Er-Src	breast:	n/a	chr5:112539051-112539061 chr5:112539052-112539060 chr5:112539050-112539062 chr5:112539051-112539061 chr5:112539051-112539061
21	USF2	chr5:112539049-112539241	Hela-S3	cervix:	n/a	chr5:112539113-112539124
22	MAZ	chr5:112538995-112539274	K562	blood:	n/a	n/a
23	POLR2A	chr5:112538987-112539143	Hela-S3	cervix:	n/a	n/a
24	RCOR1	chr5:112538892-112539399	K562	blood:	n/a	n/a
25	ZKSCAN1	chr5:112538913-112539103	Hela-S3	cervix:	n/a	n/a
26	JUND	chr5:112538903-112539210	HepG2	liver:	n/a	chr5:112539051-112539061 chr5:112539052-112539060 chr5:112539050-112539061 chr5:112539050-112539062 chr5:112539051-112539061 chr5:112539051-112539061
27	MAX	chr5:112538816-112539218	K562	blood:	n/a	n/a
28	USF1	chr5:112539036-112539194	HepG2	liver:	n/a	chr5:112539113-112539124
29	POLR2A	chr5:112538518-112539877	PFSK-1	brain:	n/a	n/a
30	STAT3	chr5:112538683-112539241	MCF10A-Er-Src	breast:	n/a	chr5:112538724-112538732 chr5:112538746-112538758
31	MYC	chr5:112538713-112539316	MCF10A-Er-Src	breast:	n/a	n/a
32	MYC	chr5:112538962-112539146	K562	blood:	n/a	n/a
33	MAFF	chr5:112539021-112539221	K562	blood:	n/a	n/a
34	TAL1	chr5:112539018-112539229	K562	blood:	n/a	n/a
35	MYC	chr5:112538954-112539275	K562	blood:	n/a	n/a
36	JUN	chr5:112538985-112539152	HepG2	liver:	n/a	chr5:112539051-112539061 chr5:112539052-112539060 chr5:112539050-112539062 chr5:112539051-112539061 chr5:112539051-112539061
37	E2F6	chr5:112538857-112539199	K562	blood:	n/a	n/a
38	SP1	chr5:112538586-112539545	HCT-116	colon:	n/a	chr5:112539065-112539079
39	FOSL1	chr5:112538887-112539212	K562	blood:	n/a	chr5:112539051-112539061 chr5:112539052-112539060 chr5:112539050-112539062 chr5:112539051-112539061 chr5:112539050-112539061 chr5:112539051-112539061
40	TBL1XR1	chr5:112539013-112539119	K562	blood:	n/a	n/a
41	MXI1	chr5:112537418-112540905	SK-N-SH	brain:	n/a	n/a
42	MYC	chr5:112538863-112539130	MCF-7	breast:	n/a	n/a
43	ZNF263	chr5:112538624-112539530	HEK293-T-REx	kidney:	n/a	n/a
44	CBX3	chr5:112538745-112539426	HCT-116	colon:	n/a	n/a
45	MAX	chr5:112538790-112539245	Hela-S3	cervix:	n/a	n/a
46	BHLHE40	chr5:112538805-112539189	HepG2	liver:	n/a	n/a
47	RAD21	chr5:112538966-112539158	IMR90	lung:	n/a	n/a
48	POLR2A	chr5:112538725-112539168	MCF10A-Er-Src	breast:	n/a	n/a
49	FOSL2	chr5:112538819-112539232	HepG2	liver:	n/a	chr5:112539051-112539061 chr5:112539052-112539060 chr5:112539050-112539062 chr5:112539051-112539061 chr5:112539051-112539061
50	POLR2A	chr5:112538771-112539223	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112537173..112539985-chr5:112540177..112543162,2	K562	blood:
2	chr5:112538594..112540259-chr5:112848065..112850694,2	MCF-7	breast:

Variant related genes	Relation type
MCC	TF binding region
ENSG00000047188	Chromatin interaction
ENSG00000171444	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10035647	1.00[ASN][1000 genomes]
rs10037038	1.00[ASN][1000 genomes]
rs10069434	1.00[ASN][1000 genomes]
rs10076511	1.00[ASN][1000 genomes]
rs10519339	1.00[ASN][1000 genomes]
rs10519340	1.00[ASN][1000 genomes]
rs10519342	1.00[ASN][1000 genomes]
rs11241199	1.00[ASN][1000 genomes]
rs11951541	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11958840	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13362511	1.00[ASN][1000 genomes]
rs17135464	1.00[ASN][1000 genomes]
rs17135493	1.00[ASN][1000 genomes]
rs17135511	1.00[ASN][1000 genomes]
rs1968992	1.00[ASN][1000 genomes]
rs2091802	1.00[ASN][1000 genomes]
rs55967427	1.00[ASN][1000 genomes]
rs56104704	1.00[ASN][1000 genomes]
rs56410005	1.00[ASN][1000 genomes]
rs57002698	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57602920	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57696719	1.00[ASN][1000 genomes]
rs58069204	1.00[ASN][1000 genomes]
rs58237028	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58879623	1.00[ASN][1000 genomes]
rs59101992	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59673184	1.00[ASN][1000 genomes]
rs59807191	1.00[ASN][1000 genomes]
rs60185446	1.00[ASN][1000 genomes]
rs60590719	1.00[ASN][1000 genomes]
rs60636636	1.00[ASN][1000 genomes]
rs60727695	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61623201	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61643643	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61692685	1.00[ASN][1000 genomes]
rs62374390	1.00[ASN][1000 genomes]
rs634261	1.00[ASN][1000 genomes]
rs6859436	1.00[ASN][1000 genomes]
rs6859619	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6874561	1.00[ASN][1000 genomes]
rs6878329	1.00[ASN][1000 genomes]
rs6899178	1.00[ASN][1000 genomes]
rs73244736	1.00[ASN][1000 genomes]
rs73244737	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244738	1.00[ASN][1000 genomes]
rs73244740	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244742	1.00[ASN][1000 genomes]
rs73244743	1.00[ASN][1000 genomes]
rs73244754	1.00[ASN][1000 genomes]
rs73244755	1.00[ASN][1000 genomes]
rs73244756	1.00[ASN][1000 genomes]
rs73244763	1.00[ASN][1000 genomes]
rs73244764	1.00[ASN][1000 genomes]
rs73244773	1.00[ASN][1000 genomes]
rs73244797	1.00[ASN][1000 genomes]
rs73246617	1.00[ASN][1000 genomes]
rs7702837	1.00[ASN][1000 genomes]
rs7708947	1.00[ASN][1000 genomes]
rs7710138	1.00[ASN][1000 genomes]
rs7723474	1.00[ASN][1000 genomes]
rs9326885	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112522600-112541000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:112531800-112541000	Weak transcription	Aorta	Aorta
3	chr5:112533800-112541400	Weak transcription	Spleen	Spleen
4	chr5:112535600-112540400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:112535600-112540600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:112535800-112540600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:112536200-112540200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:112536400-112541800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:112537000-112540400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:112537200-112541800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:112537200-112542000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr5:112537400-112539400	Enhancers	HUVEC	blood vessel
13	chr5:112537400-112541200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:112537400-112541800	Enhancers	Adipose Nuclei	Adipose
15	chr5:112537600-112539200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr5:112537600-112539200	Active TSS	Fetal Heart	heart
17	chr5:112537600-112539400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:112537600-112539400	Enhancers	Ovary	ovary
19	chr5:112537600-112539400	Enhancers	Psoas Muscle	Psoas
20	chr5:112537600-112540000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:112537600-112541200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr5:112538000-112539800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:112538000-112541400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:112538200-112539400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr5:112538400-112540400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:112538400-112541000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr5:112538400-112541200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:112538600-112539200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr5:112538600-112539200	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr5:112538600-112539200	Enhancers	Placenta	Placenta
31	chr5:112538600-112539200	Flanking Active TSS	Left Ventricle	heart
32	chr5:112538600-112539200	Enhancers	Placenta Amnion	Placenta Amnion
33	chr5:112538600-112539200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr5:112538600-112539200	Enhancers	Stomach Smooth Muscle	stomach
35	chr5:112538600-112539200	Flanking Active TSS	Hela-S3	cervix
36	chr5:112538600-112539400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr5:112538600-112539400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:112538600-112539400	Flanking Active TSS	Fetal Lung	lung
39	chr5:112538600-112539400	Enhancers	Fetal Stomach	stomach
40	chr5:112538600-112539400	Flanking Active TSS	NH-A	brain
41	chr5:112538600-112539600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:112538600-112539600	Active TSS	Brain Germinal Matrix	brain
43	chr5:112538600-112539600	Enhancers	Stomach Mucosa	stomach
44	chr5:112538600-112540000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:112538600-112540000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:112538600-112540000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:112538600-112540400	Flanking Active TSS	NHEK	skin
48	chr5:112538600-112541800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:112538600-112542000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:112538800-112539200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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